Sökning: "WES model"
Visar resultat 1 - 5 av 7 avhandlingar innehållade orden WES model.
1. Forestry machine and soil interaction for sustainable forestry
Sammanfattning : More than 50 percent of the land area of the Nordic countries Finland, Norway, and Sweden are covered by dense forests and they are among the most important producers of forest products in the world. Forestry in these countries is based on sustainable management principles – reforestation follows harvesting. LÄS MER
2. On forestry machine and soil interaction for sustainable forestry
Sammanfattning : More than 50 percent of the land area of the Nordic countries Finland, Norway, and Sweden are covered by dense forests and they are among the most important producers of forest products in the world. Forestry in these countries is based on sustainable management principles – reforestation follows harvesting. LÄS MER
3. Mitochondrial dysfunction and the metabolism - studies on respiratory chain disorders
Sammanfattning : Background: Mutations of the mitochondrial assembly factor BCS1L disrupt assembly and function of the respiratory chain complex III (CIII) and thereby result in energy deprivation. In GRACILE syndrome, the BCS1L mutation causes a liver disorder that leads to metabolic disturbances associated with severe growth restriction. LÄS MER
4. Genetics of Two Mendelian Traits and Validation of Induced Pluripotent Stem Cell (iPSC) Technology for Disease Modeling
Sammanfattning : Novel technologies for genome analysis have provided almost unlimited opportunities to uncover structural gene variants behind human disorders. Whole exome sequencing (WES) is especially useful for understanding rare Mendelian conditions, because it reduces the requirements for a priori clinical data, and can be applied on a small number of patients. LÄS MER
5. NGS based studies on primary immunodeficiencies (PIDs) : causative gene identification, tool development and application
Sammanfattning : Primary immunodeficiency diseases (PIDs) are composed by a group of highly heterogeneous immune system diseases, of which approximately 350 forms of PID have been described so far. The causative gene of around 60% of patients with PIDs has yet unknown. LÄS MER